Canonical Allele Identifier: CA7385942
Gene: JAG2 HGNC NCBI
COSMIC:
COSM48446 (not active)
MyVariant.info:
GRCh38 chr14:g.105149311C>T
GRCh37 chr14:g.105615648C>T
Revel Score:
ENST00000331782 (MANE Select) 0.225
ENST00000347004 0.225
gnomAD v2:
14:105615648 C / T
gnomAD v3:
14:105149311 C / T
gnomAD v4:
chr14-105149311-C-T
Joint Max Group AF 0.23860521 (SAS)
Genomes Max Group AF 0.2043394 (SAS)
Exomes Max Group AF 0.23998214 (SAS)
dbSNP:
9972231
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.105149311C>T , CM000676.2:g.105149311C>T GRCh38
NC_000014.8:g.105615648C>T , CM000676.1:g.105615648C>T GRCh37
NC_000014.7:g.104686693C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331782.8:c.1612G>A MANE Select ENSP00000328169.3:p.Asp538Asn
ENST00000331782.7:c.1612G>A ENSP00000328169.3:p.Asp538Asn
ENST00000347004.2:c.1498G>A ENSP00000328566.2:p.Asp500Asn
NM_002226.4:c.1612G>A NP_002217.3:p.Asp538Asn
NM_145159.2:c.1498G>A NP_660142.1:p.Asp500Asn
XM_011536736.1:c.1612G>A XP_011535038.1:p.Asp538Asn
XR_001750303.2:n.1673G>A
NM_002226.5:c.1612G>A MANE Select NP_002217.3:p.Asp538Asn
NM_145159.3:c.1498G>A NP_660142.1:p.Asp500Asn
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